Early-onset cataracts highlighted as crucial indicator in overcoming diagnostic challenges of CTX
Living with cerebrotendinous xanthomatosis (CTX) presents numerous challenges, primarily due to the difficulty in obtaining an accurate diagnosis and the complex symptom management required, according to an article that focuses on the experiences of patients and caregivers dealing with CTX.
Patient and Caregiver Experiences:
- Many patients face years of misdiagnosis due to the varied and rare nature of CTX symptoms.
- The primary treatment is chenodeoxycholic acid (CDCA), which helps reduce cholestanol levels and improve symptoms.
- Patients report improvements in neurological symptoms and brain fog with CDCA, but issues like persistent diarrhea, psychiatric symptoms, and mobility problems often persist.
Cataracts in CTX:
- Early-onset bilateral cataracts are a common symptom, occurring in up to 88% of patietns with CTX.
- Cataracts often develop before other CTX symptoms, potentially leading to misdiagnosis or delayed diagnosis.
- Cataract removal surgery is frequently needed, typically within a year of starting CDCA treatment.
Early diagnosis and treatment are critical to prevent irreversible damage. Increased awareness among healthcare providers about CTX symptoms, particularly bilateral cataracts, can lead to earlier diagnosis.
The study authors recommend increased vigilance for CTX in patients with bilateral cataracts, xanthomas, or persistent neurological symptoms.
Reference
Steiner RD, DeBarber A, Larson A, et al. Living with Cerebrotendinous Xanthomatosis: Patient, Caregiver, and Expert Perspectives. Adv Ther. 2024;41(2):467-475. doi: 10.1007/s12325-023-02687-8. Epub 2023 Dec 19. PMID: 38110654; PMCID: PMC10838853.
